Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Toni S. Pearson"'
Autor:
Fayza Jaleel, Alyssa Rust, Shirley Cheung, Toni S. Pearson, Keisuke Ueda, Amy Robichaux‐Viehoever, Katie Leger, Keerthana Chintalapati, Danielle Guez‐Barber, Michele Shusterman, Bhooma Aravamuthan
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 242-250 (2024)
Abstract Objective To determine how caregivers describe dystonia in people with cerebral palsy (CP). Methods In this prospective cohort study, paper surveys were administered to caregivers between September 7, 2021 and October 28, 2021 during CP Cent
Externí odkaz:
https://doaj.org/article/ad778660bad24c218d768afc87f82716
Autor:
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1941-1952 (2022)
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be norma
Externí odkaz:
https://doaj.org/article/b9d420c58e684a458df010b18a7b69da
Autor:
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42
Externí odkaz:
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75
Autor:
Toni S. Pearson, Nalin Gupta, Waldy San Sebastian, Jill Imamura-Ching, Amy Viehoever, Ana Grijalvo-Perez, Alex J. Fay, Neha Seth, Shannon M. Lundy, Youngho Seo, Miguel Pampaloni, Keith Hyland, Erin Smith, Gardenia de Oliveira Barbosa, Jill C. Heathcock, Amy Minnema, Russell Lonser, J. Bradley Elder, Jeffrey Leonard, Paul Larson, Krystof S. Bankiewicz
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Aromatic L-amino acid decarboxylase deficiency (AADC) is a rare neurodevelopmental disorder. Here the authors describe a clinical trial of MR-guided delivery of AAV2-AADC for the treatment of AADC.
Externí odkaz:
https://doaj.org/article/77c5fbe7e4b84dc5bdd76784b47254d0
Autor:
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose trans
Externí odkaz:
https://doaj.org/article/2fa0007690e94933a2416d2145d27364
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Damien Abreu, Stephen I. Stone, Toni S. Pearson, Robert C. Bucelli, Ashley N. Simpson, Stacy Hurst, Cris M. Brown, Kelly Kries, Chinyere Onwumere, Hongjie Gu, James Hoekel, Lawrence Tychsen, Gregory P. Van Stavern, Neil H. White, Bess A. Marshall, Tamara Hershey, Fumihiko Urano
Publikováno v:
JCI Insight, Vol 6, Iss 15 (2021)
BACKGROUND Wolfram syndrome is a rare ER disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Although there is no treatment for Wolfram syndrome, preclinical studies in cell and roden
Externí odkaz:
https://doaj.org/article/cc59812ac3294482ac751139a8922e28
Autor:
Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2020)
Externí odkaz:
https://doaj.org/article/17451995e3364e8288022166b2a33f82
Autor:
Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine analyses typically utilized for the diagnosis of inborn errors of metabolism. In this study, w
Externí odkaz:
https://doaj.org/article/fa885f19fefe4f869890129fee0605d5